Variant report

Variant	rs11991593
Chromosome Location	chr8:111643350-111643351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10505147	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10505149	0.95[EUR][1000 genomes]
rs11991460	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11994387	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11995224	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11997623	0.97[EUR][1000 genomes]
rs13248174	0.94[EUR][1000 genomes]
rs13248958	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13250757	0.95[EUR][1000 genomes]
rs13254571	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13255968	0.85[EUR][1000 genomes]
rs13256480	0.85[EUR][1000 genomes]
rs13272419	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1353209	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1494241	0.85[EUR][1000 genomes]
rs1587014	0.93[EUR][1000 genomes]
rs16880946	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16880947	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16880951	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16881009	0.93[EUR][1000 genomes]
rs16881028	0.85[EUR][1000 genomes]
rs17393840	0.97[EUR][1000 genomes]
rs34235257	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34267887	0.83[EUR][1000 genomes]
rs34517324	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34526441	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34555166	0.94[EUR][1000 genomes]
rs34945017	0.95[EUR][1000 genomes]
rs35211908	0.83[EUR][1000 genomes]
rs35238090	0.95[EUR][1000 genomes]
rs35477724	0.95[EUR][1000 genomes]
rs35772751	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57792399	0.85[EUR][1000 genomes]
rs60679001	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984552	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6996014	0.93[EUR][1000 genomes]
rs6996577	0.94[EUR][1000 genomes]
rs6998792	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs720965	0.93[EUR][1000 genomes]
rs73326105	0.93[EUR][1000 genomes]
rs73328011	0.85[EUR][1000 genomes]
rs7838123	0.95[EUR][1000 genomes]
rs7846423	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024499	chr8:111190482-111691474	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539717	chr8:111190482-111691474	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv611882	chr8:111342240-111722469	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1031119	chr8:111367939-111720763	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891291	chr8:111462136-111681660	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv891292	chr8:111478321-111673039	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv831422	chr8:111578949-111755170	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025390	chr8:111605571-111806020	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv539718	chr8:111605571-111806020	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111641800-111648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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